Variant report

Variant	esv33937
Chromosome Location	chr19:19826866-19831655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19825299..19827793-chr19:19827916..19829892,2	K562	blood:
2	chr19:19828998..19830532-chr19:20011609..20013262,2	MCF-7	breast:
3	chr19:19825299..19827793-chr19:19827916..19829892,2	K562	blood:

Variant related genes	Relation type
ENSG00000267268	chromatin interactions
ENSG00000184635	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12984272	chr19:19826880-19826881	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530258722	chr19:19826882-19826883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550345566	chr19:19826883-19826884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185685695	chr19:19826917-19826918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561721942	chr19:19826992-19826993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142746958	chr19:19826997-19826998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371077170	chr19:19827005-19827006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565356205	chr19:19827043-19827044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534305627	chr19:19827059-19827060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554598247	chr19:19827061-19827062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149916271	chr19:19827096-19827097	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142947616	chr19:19827099-19827100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79027924	chr19:19827100-19827101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372065244	chr19:19827103-19827104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs137883547	chr19:19827133-19827134	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73006756	chr19:19827135-19827136	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12984880	chr19:19827197-19827198	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144371346	chr19:19827201-19827202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546493525	chr19:19827258-19827259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545542044	chr19:19827289-19827290	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559058009	chr19:19827306-19827307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572506257	chr19:19827351-19827352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541414336	chr19:19827385-19827386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375327714	chr19:19827407-19827408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561472923	chr19:19827435-19827436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73924840	chr19:19827447-19827448	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190537987	chr19:19827485-19827486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563908287	chr19:19827499-19827500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76417397	chr19:19827507-19827508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180822440	chr19:19827572-19827573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565417760	chr19:19827621-19827622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548176144	chr19:19827649-19827650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148802509	chr19:19827668-19827669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56167115	chr19:19827724-19827725	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537131140	chr19:19827733-19827734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185177415	chr19:19827796-19827797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557060527	chr19:19827800-19827801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76945979	chr19:19827815-19827816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570676266	chr19:19827840-19827841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73006760	chr19:19827898-19827899	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs73006763	chr19:19827948-19827949	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs377600809	chr19:19827958-19827959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572567960	chr19:19828026-19828027	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188426516	chr19:19828034-19828035	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534748393	chr19:19828039-19828040	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554955934	chr19:19828053-19828054	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574694025	chr19:19828057-19828058	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141495454	chr19:19828059-19828060	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573434598	chr19:19828080-19828081	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181245420	chr19:19828081-19828082	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19810800-19830800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr19:19811600-19833200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:19813400-19833000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:19814200-19833200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:19814600-19831400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
6	chr19:19814600-19831400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:19814600-19833000	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr19:19814800-19831400	ZNF genes & repeats	Fetal Brain Female	brain
9	chr19:19815200-19828400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:19815800-19831000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
11	chr19:19815800-19833200	ZNF genes & repeats	Brain Hippocampus Middle	brain
12	chr19:19817600-19828400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:19817600-19828800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:19817600-19829000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr19:19817600-19829600	ZNF genes & repeats	Brain Angular Gyrus	brain
16	chr19:19817600-19831000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
17	chr19:19817600-19831200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr19:19817600-19832000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr19:19817600-19833200	ZNF genes & repeats	Dnd41	blood
20	chr19:19817800-19828800	ZNF genes & repeats	Left Ventricle	heart
21	chr19:19817800-19829000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
22	chr19:19817800-19829600	ZNF genes & repeats	Fetal Lung	lung
23	chr19:19817800-19831200	ZNF genes & repeats	Brain Anterior Caudate	brain
24	chr19:19818000-19828800	ZNF genes & repeats	Brain Germinal Matrix	brain
25	chr19:19818000-19828800	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr19:19818000-19831400	ZNF genes & repeats	Brain Substantia Nigra	brain
27	chr19:19818200-19829400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:19818200-19830200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:19818400-19828600	ZNF genes & repeats	Right Ventricle	heart
30	chr19:19818400-19829000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr19:19818400-19833800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:19818600-19832400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:19819000-19829000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:19819200-19828800	ZNF genes & repeats	Ovary	ovary
35	chr19:19819200-19829200	ZNF genes & repeats	Colon Smooth Muscle	Colon
36	chr19:19819200-19831200	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr19:19819200-19831200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr19:19819200-19831200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
39	chr19:19819400-19830400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr19:19819800-19827200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:19819800-19829000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:19820000-19830400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:19820000-19831200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr19:19820000-19831200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
45	chr19:19820000-19833000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
46	chr19:19820200-19828600	ZNF genes & repeats	Psoas Muscle	Psoas
47	chr19:19820200-19828800	ZNF genes & repeats	Fetal Intestine Large	intestine
48	chr19:19820200-19830000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
49	chr19:19820400-19829000	ZNF genes & repeats	HepG2	liver
50	chr19:19820400-19830400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood

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